Research Topics
Genomes and Genes
| Andrew J LeesSummaryAffiliation: University College London Country: UK Publications
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Detail Information
Publications
Perampanel, an AMPA antagonist, found to have no benefit in reducing "off" time in Parkinson's diseaseAndrew Lees
Reta Lila Weston Institute for Neurological Studies, University College London, London, UK
Mov Disord 27:284-8. 2012..Two multicenter randomized, double-blind, placebo-controlled, parallel-group phase III studies assessed the efficacy and safety of adjunctive perampanel in patients with Parkinson's disease and motor fluctuations...
Safety and tolerability of adjunctive tolcapone treatment in patients with early Parkinson's diseaseA J Lees
Reta Lila Weston Institute for Neurological Studies, University College London, 1 Wakefield St, London WC1N 1PJ, UK
J Neurol Neurosurg Psychiatry 78:944-8. 2007..The safety and tolerability of adjunctive tolcapone initiated simultaneously with levodopa was evaluated with a focus on increases in liver transaminase and hepatotoxicity...- Parkinson's diseaseAndrew J Lees
Department of Molecular Neuroscience and Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London and the National Hospital for Neurology and Neurosurgery, London, UK
Lancet 373:2055-66. 2009..Embryonic stem cells and gene therapy are promising research therapeutic approaches... - Evidence-based efficacy comparison of tolcapone and entacapone as adjunctive therapy in Parkinson's diseaseAndrew J Lees
Reta Lila Weston Institute of Neurological Studies, ION, UCL, London, UK
CNS Neurosci Ther 14:83-93. 2008..These findings indicate that tolcapone should be considered in all patients with entacapone-refractory motor fluctuations... - The Parkinson chimeraAndrew J Lees
Reta Lila Weston Institute for Neurological Studies, Institute of Neurology, UCL and the National Hospital for Neurology and Neurosurgery, Queen Square, London
Neurology 72:S2-11. 2009.... - Unresolved issues relating to the shaking palsy on the celebration of James Parkinson's 250th birthdayAndrew J Lees
Reta Lila Weston Institute for Neurological Disorders, Institute of Neurology, University College London, London, UK
Mov Disord 22:S327-34. 2007.... 
Alternatives to levodopa in the initial treatment of early Parkinson's diseaseAndrew Lees
Reta Lila Weston Institute of Neurological Sciences, University College London, London, UK
Drugs Aging 22:731-40. 2005..Effective therapy in PD should prevent disease progression and abolish motor and cognitive handicap. Currently, none of the existing drugs meets all these needs...- Synphilin-1 and parkin show overlapping expression patterns in human brain and form aggresomes in response to proteasomal inhibitionRina Bandopadhyay
Reta Lila Weston Institute of Neurological Studies, Royal Free and UCL Medical School, The Windeyer Building, 46 Cleveland Street, London W1T 4JF, UK
Neurobiol Dis 20:401-11. 2005..We confirm that synphilin-1 and parkin are components of majority of LBs in Parkinson's disease and that both proteins are susceptible to proteasomal degradation... - Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic dataNaheed L Khan
Department of Molecular Neuroscience, Institute of Neurology, London, UK
Brain 128:2786-96. 2005.... - Association of MAPT haplotype-tagging SNPs with sporadic Parkinson's diseaseJana Vandrovcova
Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, UK
Neurobiol Aging 30:1477-82. 2009..However, the effect is not strong, and the H1c haplotype is not involved, suggesting a mechanism that is distinct to that involved in the associated tauopathies and may be explained by the H1/H2 inversion... - Concomitant progressive supranuclear palsy and multiple system atrophy: more than a simple twist of fate?Laura Silveira-Moriyama
Reta Lila Weston Institute for Neurological Studies, UCL Institute of Neurology, London, UK
Neurosci Lett 467:208-11. 2009..The growing number of collective case reports, including the one reported here, might suggest an increased prevalence of concomitant PSP and MSA than what would be expected by chance... - Nigral degeneration and striatal dopaminergic dysfunction in idiopathic and Parkin-linked Parkinson's diseaseMichele T M Hu
MRC Clinical Sciences Centre, Division of Neuroscience, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, United Kingdom
Mov Disord 21:299-305. 2006.... - Compulsive drug use linked to sensitized ventral striatal dopamine transmissionAndrew H Evans
Reta Lila Weston Institute of Neurological Studies and The National Hospital for Neurology and Neurosurgery, London, United Kingdom
Ann Neurol 59:852-8. 2006..INTERPRETATION: This provides evidence that links sensitization of ventral striatal circuitry in humans to compulsive drug use... - NR4A2 genetic variation in sporadic Parkinson's disease: a genewide approachDaniel G Healy
Department of Molecular Neuroscience, Institute of Neurology, London, United Kingdom
Mov Disord 21:1960-3. 2006..Here, we use a haplotype-tagging approach in 802 PD patients and 784 controls and demonstrate that common genetic variation, including NR4A2 haplotypes, does not influence the risk of PD in the Caucasian population... - Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonismDavid R Williams
The Queen Square Brain Bank for Neurological Disorders, University College London, UK
Brain 128:1247-58. 2005..The different tau isoform deposition in the basal pons suggests that this may ultimately prove to be a discrete nosological entity... - Multiple system atrophy-parkinsonism with slow progression and prolonged survival: a diagnostic catchIgor N Petrovic
National Hospital for Neurology and Neurosurgery, Queen Square, and the Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, United Kingdom
Mov Disord 27:1186-90. 2012..Multiple system atrophy (MSA) is a neurodegenerative disease leading to severe physical impairment, with a disease duration from onset to death of 6-9 years... - Dopaminergic modulation of striato-frontal connectivity during motor timing in Parkinson's diseaseMarjan Jahanshahi
Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London, UK
Brain 133:727-45. 2010..In contrast, our results establish for the first time that administration of dopaminergic medication increases striatal-frontal connectivity between the caudate nucleus and prefrontal cortex during motor timing... - Upregulation of dopamine D2 receptors in dopaminergic drug-naive patients with Parkin gene mutationsChristoph Scherfler
MRC Clinical Science Centre and Division of Neuroscience, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, United Kingdom
Mov Disord 21:783-8. 2006..Parkin-positive patients appear to have a greater susceptibility to the exposure to dopaminergic medication than IPD patients, which in turn might be an indirect effect of their genetic mutation... - Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control studyDaniel G Healy
Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
Lancet Neurol 7:583-90. 2008..LRRK2-associated PD be distinguished from idiopathic PD; which mutations in LRRK2 are pathogenic; and what is the age-specific cumulative risk of PD for individuals who inherit or are at risk of inheriting a deleterious mutation in LRRK2?.. - Lewy- and Alzheimer-type pathologies in Parkinson's disease dementia: which is more important?Yaroslau Compta
Queen Square Brain Bank for Neurological Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
Brain 134:1493-505. 2011..Cortical amyloid-β and age at disease onset seem to determine the rate to dementia... - In vivo assessment of brain monoamine systems in parkin gene carriers: a PET studyNicola Pavese
MRC Clinical Science Centre and Division of Neuroscience and Mental Health, Imperial College, London, UK
Exp Neurol 222:120-4. 2010..These findings suggest that parkin patients and IPD patients with similar striatal dysfunction have different patterns of monoaminergic involvement, with more widespread dysfunction in IPD... - A comparison of depression, anxiety, and health status in patients with progressive supranuclear palsy and multiple system atrophyAnette Schrag
Institute of Neurology, University College London, London, UK
Mov Disord 25:1077-81. 2010..Anxiety symptoms affected 37% of patients in both groups and contributed to impaired subjective health status. Pain was more problematic in MSA than PSP... - Brain stem pathology in Parkinson's disease: an evaluation of the Braak staging modelAnn E Kingsbury
Reta Lila Weston Institute of Neurological Studies, UCL, Institute of Neurology, London, United Kingdom
Mov Disord 25:2508-15. 2010..These findings broadly support the Braak hypothesis of caudo-rostral development but indicate that the extent of the disease in the cortex and the severity of pathology in the medulla were independent of one another... - UCHL-1 is not a Parkinson's disease susceptibility geneDaniel G Healy
Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom
Ann Neurol 59:627-33. 2006..The strongest evidence comes from a meta-analysis of small studies that reported the S18Y polymorphism as protective against PD, after pooling studies of white and Asian subjects. Here, we present data that challenge this association... - Pathological tau burden and distribution distinguishes progressive supranuclear palsy-parkinsonism from Richardson's syndromeDavid R Williams
Queen Square Brain Bank for Neurological Disorders, London, UK
Brain 130:1566-76. 2007..The grading system we have developed provides an easy-to-use and sensitive tool for the morphological assessment of PSP-tau pathology and allows for consideration of the clinical diversity that is known to occur in PSP... - L-Dopa-responsive Parkinson's syndrome in association with phenylketonuria: In vivo dopamine transporter and D2 receptor findingsAndrew H Evans
Reta Lila Weston Institute of Neurological Studies, University College London, United Kingdom
Mov Disord 19:1232-6. 2004..This combination of imaging findings indicates a possible upregulation of postsynaptic D2 receptors in the context of intact presynaptic dopamine nerve terminal density... - The spectrum of pathological involvement of the striatonigral and olivopontocerebellar systems in multiple system atrophy: clinicopathological correlationsTetsutaro Ozawa
Queen Square Brain Bank, Department of Molecular Neuroscience, Institute of Neurology, Queen Square, UCL, London, UK
Brain 127:2657-71. 2004.... - UCHL-1 gene in multiple system atrophy: a haplotype tagging approachDaniel G Healy
Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom
Mov Disord 20:1338-43. 2005..This search included the S18Y variant of UCHL-1, which has been reported to be protective in Parkinson's disease... - Differential DJ-1 gene expression in Parkinson's diseaseRavindran Kumaran
Reta Lila Weston Institute of Neurological Disease, Institute of Neurology, University College London, 1, Wakefield Street, WC1N 1PJ, UK
Neurobiol Dis 36:393-400. 2009..Our findings point to a putative role of DJ-1 in the pathogenesis of PD... - Development, characterisation and epitope mapping of novel monoclonal antibodies for DJ-1 (PARK7) proteinRina Bandopadhyay
Reta Lila Weston Institute of Neurological Studies, Royal Free and UCL Medical School, The Windeyer Building, 46, Cleveland Street, London W1T 4JF, UK
Neurosci Lett 383:225-30. 2005..These antibodies could be exploited as important tools in dissecting out DJ-1 expression in different species and examination of the role of DJ-1 in Parkinson's disease... - Does corticobasal degeneration exist? A clinicopathological re-evaluationHelen Ling
Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, 1 Wakefield Street, London WC1N 1PJ, UK
Brain 133:2045-57. 2010..Despite these diagnostic difficulties we conclude that corticobasal degeneration is a discrete clinicopathological entity but with a broader clinical spectrum than was originally proposed... - Hyposmia in progressive supranuclear palsyLaura Silveira-Moriyama
Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, United Kingdom
Mov Disord 25:570-7. 2010..Further prospective studies including patients with early PSP and PSP-P with postmortem confirmation might help clarify if smell tests could be useful when the differential diagnosis lies between PD and PSP... - Sleep disturbance and impulsive-compulsive behaviours in Parkinson's diseaseSean S O'Sullivan
Reta Lila Weston Institute of Neurological Studies, University College London, London, UK
J Neurol Neurosurg Psychiatry 82:620-2. 2011..Impulsive-compulsive behaviours (ICBs) in Parkinson's disease (PD) have been anecdotally linked with impaired sleep. The authors investigate measures of sleep in PD patients with and without ICBs, and in healthy controls... - Altered cleavage and localization of PINK1 to aggresomes in the presence of proteasomal stressMiratul M K Muqit
Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK
J Neurochem 98:156-69. 2006..These observations provide valuable insights into the mechanisms of LB formation in PD that should lead to a better understanding of PD pathogenesis... - Relationships between age and late progression of Parkinson's disease: a clinico-pathological studyPeter A Kempster
Reta Lila Weston Institute of Neurological Studies, University College London, 1 Wakefield Street, London WC1N 1PJ, UK
Brain 133:1755-62. 2010..The chief effects of age on the rate of progression are seen over the early-middle part of the disease. An exponential curve for clinical progression provides the best explanation for these observations about age and the disease course... - The clinical features of pathologically confirmed vascular parkinsonismPhilip George Glass
Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, 1 Wakefield St, London, WC1N 1PJ, UK
J Neurol Neurosurg Psychiatry 83:1027-9. 2012..To evaluate in detail the clinical features in a large series of pathologically confirmed cases of vascular Parkinsonism (VP)... - Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutationsCoro Paisan-Ruiz
Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
Neurobiol Aging 33:814-23. 2012..Later onset cases tended to have less tau involvement but still severe alpha-synuclein pathology. The clinical and neuropathological features clearly represent a link between PLA2G6 and parkinsonian disorders... - Nonmotor symptoms as presenting complaints in Parkinson's disease: a clinicopathological studySean S O'Sullivan
Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom
Mov Disord 23:101-6. 2008..Presenting with NMS does not affect the motor response to medication, but is associated with shorter disease duration (chi(2) P = 0.016)... - Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow-up over 10 yearsNaheed L Khan
Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom
Mov Disord 20:479-84. 2005..Some acceleration of disability was observed in some of the cases as they entered the third decade of illness, but dementia was absent... - Novelty seeking behaviour in Parkinson's diseaseAtbin Djamshidian
Department of Molecular Neuroscience and Reta Lila Weston Institute for Neurological Studies, University of London, London, United Kingdom
Neuropsychologia 49:2483-8. 2011..Our findings suggest that attraction to novelty is a personality trait in all PD patients with ICBs which is independent of medication status... - [123I] FP-CIT spect study in vascular parkinsonism and Parkinson's diseaseJan Zijlmans
National Hospital for Neurology and Neurosurgery, London, United Kingdom
Mov Disord 22:1278-85. 2007..The presence of a rather symmetrical FP-CIT uptake in the basal ganglia may help to distinguish VP from PD and could therefore be used as a criterion for the clinical diagnosis of VP... - Cue-induced striatal dopamine release in Parkinson's disease-associated impulsive-compulsive behavioursSean S O'Sullivan
Reta Lila Weston Institute of Neurological Studies, University College London, London WC1N 1PJ, UK
Brain 134:969-78. 2011.... - The effect of drug treatment on neurogenesis in Parkinson's diseaseSean S O'Sullivan
Reta Lila Weston Institute of Neurological Studies, University College London, London, United Kingdom
Mov Disord 26:45-50. 2011..Our findings suggest a positive impact of chronic L-dopa use on the number of NSC in the SVZ of PD patients, which may have relevance for future studies on neuroprotection in neurodegenerative diseases... - Regional differences in the severity of Lewy body pathology across the olfactory cortexLaura Silveira-Moriyama
Reta Lila Weston Institute for Neurological Studies, UCL Institute of Neurology, London, UK
Neurosci Lett 453:77-80. 2009.... - Hypokinesia without decrement distinguishes progressive supranuclear palsy from Parkinson's diseaseHelen Ling
Sara Koe PSP Research Centre, Institute of Neurology, University College London, UK
Brain 135:1141-53. 2012..Similarly, 'micrographia' and 'lack of decrement in script size' are also more common in progressive supranuclear palsy than in Parkinson's disease... - Adult-onset tic disorder, motor stereotypies, and behavioural disturbance associated with antibasal ganglia antibodiesMark J Edwards
Sobell Department of Movement Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London, United Kingdom
Mov Disord 19:1190-6. 2004..We suggest that there might be a causal relationship between ABGA and the clinical syndrome in these cases and that ABGA should be considered as a possible etiology for adult-onset tics... - MRI derived brain atrophy in PSP and MSA-P. Determining sample size to detect treatment effectsDominic C Paviour
The Sara Koe PSP Research Centre, Institute of Neurology, 1 Wakefield Street, London WC1N, UK
J Neurol 254:478-81. 2007..Regional rather than whole brain atrophy rates calculated from volumetric serial MRI brain scans in PSP and MSA-P provide a more practical and powerful means of monitoring disease progression in clinical trials... - Longitudinal MRI in progressive supranuclear palsy and multiple system atrophy: rates and regions of atrophyDominic C Paviour
The Sara Koe PSP Research Centre, Institute of Neurology, UCL, London UK
Brain 129:1040-9. 2006..Clinico-radiological associations suggest these regional atrophy rates have potential as markers of disease progression in trials of novel therapies... - Distinguishing SWEDDs patients with asymmetric resting tremor from Parkinson's disease: a clinical and electrophysiological studyPetra Schwingenschuh
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London, United Kingdom
Mov Disord 25:560-9. 2010..The underlying pathophysiology of SWEDDs differs from PD but has similarities with primary dystonia... - Testing an aetiological model of visual hallucinations in Parkinson's diseaseDavid A Gallagher
Institute of Neurology, University College London, UK
Brain 134:3299-309. 2011..These clinical data are supported by the pathological study, in which higher overall cortical Lewy body counts, and in particular areas implicated in visuoperception and executive function, were associated with visual hallucinations... - The use of a color coded probability scale to interpret smell tests in suspected parkinsonismLaura Silveira-Moriyama
Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, United Kingdom
Mov Disord 24:1144-53. 2009..We suggest smell tests could be used routinely in challenging cases where there is diagnostic uncertainty and help inform decision making relating to the need for neuro imaging... - Impulsive-compulsive spectrum behaviors in pathologically confirmed progressive supranuclear palsySean S O'Sullivan
Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom
Mov Disord 25:638-42. 2010..Pathological comparisons between these three cases and other case series of progressive supranuclear palsy are made... - Globular glial tauopathies (GGT) presenting with motor neuron disease or frontotemporal dementia: an emerging group of 4-repeat tauopathiesZeshan Ahmed
Queen Square Brain Bank for Neurological Disorders, Department of Molecular Neuroscience, UCL Institute of Neurology, 1 Wakefield Street, London, WC1N 1PJ, UK
Acta Neuropathol 122:415-28. 2011..We, therefore, propose the term globular glial tauopathy as an encompassing term to classify this emerging class of 4R tauopathy... - A functional polymorphism regulating dopamine beta-hydroxylase influences against Parkinson's diseaseDaniel G Healy
Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London WC1N 3BG, United Kingdom
Ann Neurol 55:443-6. 2004..46 (CI = 0.27-0.8). Rather than identifying a haplotype, or a marker in linkage disequilibrium with the risk variant, this to our knowledge is the first report directly linking PD susceptibility with a proven functional variant... - Continuous subcutaneous apomorphine therapy improves dyskinesias in Parkinson's disease: a prospective study using single-dose challengesRegina Katzenschlager
Reta Lila Weston Institute of Neurological Studies, University College London, United Kingdom
Mov Disord 20:151-7. 2005.... - Glucocerebrosidase mutations do not cause increased Lewy body pathology in Parkinson's diseaseLaura Parkkinen
Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, University College London, UK
Mol Genet Metab 103:410-2. 2011..Our results do not support GBA carriers to have a more advanced neuropathologic disease i.e. increased density of protein aggregates... - Pathological gambling in Parkinson's disease: risk factors and differences from dopamine dysregulation. An analysis of published case seriesDavid A Gallagher
Department of Clinical Neurosciences, Royal Free and University College Medical School, London, United Kingdom
Mov Disord 22:1757-63. 2007..PG is predominantly associated with oral DA. It often occurs in isolation and may not be associated with DDS, which typically occurs on treatment with levodopa or subcutaneous apomorphine... - Natural history and syndromic associations of orthostatic tremor: a review of 41 patientsWillibald Gerschlager
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom
Mov Disord 19:788-95. 2004..OT may not be a discrete disorder as commonly believed and associated features like parkinsonism present in nearly 25% of cases. Dopaminergic dysfunction may have a role in the pathophysiology of this disorder... - Punding in Parkinson's disease: its relation to the dopamine dysregulation syndromeAndrew H Evans
Reta Lila Weston Institute of Neurological Studies, London, United Kingdom
Mov Disord 19:397-405. 2004..We believe that this is an underreported, socially disabling phenomenon that is commonly associated with the syndrome of dopamine dysregulation and is phenomenologically distinct from both obsessive-compulsive disorder and mania... - Punding and dyskinesiasLaura Silveira-Moriyama
Reta Lila Weston Institute of Neurological Studies, University College London, London, United Kingdom
Mov Disord 21:2214-7. 2006..We suggest the neural systems mediating the expression of dyskinesias and punding might overlap and that punding should be looked for systematically in PD patients presenting with disabling severe dyskinesias... - The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's diseaseRina Bandopadhyay
Reta Lila Weston Institute of Neurological Studies, Royal Free and UCL Medical School, 46 Cleveland Street, London W1T 4JF, UK
Brain 127:420-30. 2004..These results are consistent with the hypothesis that neuronal-glial interactions are important in the pathophysiology of Parkinson's disease... - Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementiaDavid R Williams
The Queen Square Brain Bank for Neurological Disorders Reta Lila Weston Institute for Neurological Studies, University College London, London, United Kingdom
Mov Disord 20:1264-71. 2005..Several new features were identified, including facial-faucial-finger mini-myoclonus, visual hallucinations, and oculogyric dystonic spasms... - The use of smell identification tests in the diagnosis of Parkinson's disease in BrazilLaura Silveira-Moriyama
Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, United Kingdom
Mov Disord 23:2328-34. 2008..Our data provide support for the use of the UPSIT-40 and SS-16 to help distinguish early PD from controls... - Cortical alpha-synuclein load is associated with amyloid-beta plaque burden in a subset of Parkinson's disease patientsTammaryn Lashley
Queen Square Brain Bank for Neurological Disorders, Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
Acta Neuropathol 115:417-25. 2008.... - The gene responsible for PARK6 Parkinson's disease, PINK1, does not influence common forms of parkinsonismDaniel G Healy
Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom
Ann Neurol 56:329-35. 2004.... - Neuronal intranuclear inclusion disease: report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodiesDominic C Paviour
The Sara Koe Progressive Supranuclear Palsy Research Centre, Institute of Neurology, University College London, London, United Kingdom
Mov Disord 20:1345-9. 2005..This rare condition, which may be diagnosed in life with a full thickness rectal biopsy, needs to be considered in the differential diagnosis of any case presenting as progressive juvenile parkinsonism (JP) or dystonia... - Development and assessment of sensitive immuno-PCR assays for the quantification of cerebrospinal fluid three- and four-repeat tau isoforms in tauopathiesConnie Luk
Reta Lila Weston Institute, UCL Institute of Neurology, London, UK
J Neurochem 123:396-405. 2012.... - Conventional magnetic resonance imaging in confirmed progressive supranuclear palsy and multiple system atrophyLuke A Massey
Sara Koe PSP Research Centre, UCL Institute of Neurology, University College London, London, United Kingdom
Mov Disord 27:1754-62. 2012..However, the low sensitivity of these and macroscopic findings at autopsy suggest a need for imaging techniques sensitive to microstructural abnormalities without regional atrophy... - Validation of the MDS-UPDRS Part I for nonmotor symptoms in Parkinson's diseaseDavid A Gallagher
Institute of Neurology, University College London, London, UK
Mov Disord 27:79-83. 2012..0001; other nonmotor features factor score: r = 0.87, P < 0.0001). Our data demonstrate that the MDS-UPDRS Part I total score has a strong relationship with a composite score of validated scales for the nonmotor aspects of PD... - Transportin1: a marker of FTLD-FUSJack Brelstaff
Queen Square Brain Bank for Neurological Disorders, Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, UK
Acta Neuropathol 122:591-600. 2011..Our biochemical investigations demonstrate that urea-soluble TRN1 is present in aFTLD-U and NIFID, but not in normal control brains. These findings implicate abnormalities of FUS transport in the pathogenesis of FTLD-FUS... - The corticotrophin-releasing factor-like peptide urocortin reverses key deficits in two rodent models of Parkinson's diseaseAmjad Abuirmeileh
Department of Pharmacology, The School of Pharmacy, 29 39 Brunswick Square, London, UK
Eur J Neurosci 26:417-23. 2007..The apparent ability of UCN to arrest the progression of or even reverse nigral lesions once established suggests that pharmacological manipulation of this system could have substantial therapeutic utility... - Pathophysiological differences between musician's dystonia and writer's crampKarin Rosenkranz
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, UK
Brain 128:918-31. 2005..The fact that sensory input had no effect on motor output in patients with WC suggests that sensory information from the hand may play a smaller role in provoking pathological changes in WC than in MD... - Dopamine dysregulation syndrome: an overview of its epidemiology, mechanisms and managementSean S O'Sullivan
Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, England
CNS Drugs 23:157-70. 2009..Further studies are also required to identify factors that can predict those patients with DDS or ICDs who will derive benefit from surgical interventions such as deep brain stimulation... - An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia familyHelen Ling
Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom
Mov Disord 26:905-9. 2011..Autosomal dominant dopa-responsive dystonia is commonly caused by mutations in the guanosine triphosphate cyclohydrolase-1 gene... - A comparative clinical, pathological, biochemical and genetic study of fused in sarcoma proteinopathiesTammaryn Lashley
Queen Square Brain Bank, Institute of Neurology, Queen Square, London WC1N 3BG, UK
Brain 134:2548-64. 2011..The co-existence of fused in sarcoma-positive inclusions in both motor neurons and extramotor cerebral structures is a characteristic finding in sporadic fused in sarcoma proteinopathies, indicating a multisystem disorder... - Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6)Naheed L Khan
Department of Molecular Neurosciences, Institute of Neurology, London, United Kingdom
Mov Disord 20:1115-9. 2005..We suggest that SCA6, in common with SCA2 and SCA3, may be associated with Parkinsonism attributable to nigral loss and dopaminergic dysfunction. Moreover, isolated cases may be confused with multiple system atrophy... - A common LRRK2 mutation in idiopathic Parkinson's diseaseWilliam P Gilks
Department of Molecular Neuroscience, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
Lancet 365:415-6. 2005..We suggest that testing for this mutation will be important in the management and genetic counselling of patients with Parkinson's disease... - Unclassifiable parkinsonism in two European tertiary referral centres for movement disordersRegina Katzenschlager
National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom
Mov Disord 18:1123-31. 2003..Prolonged follow-up and neuropathological diagnosis will be needed to determine whether all these cases represent atypical presentations of established clinico-pathological entities or whether some represent unrecognised new disorders... - Visual hallucinations in the diagnosis of idiopathic Parkinson's disease: a retrospective autopsy studyDavid R Williams
Queen Square Brain Bank for Neurological Disorders and Institute of Neurology, University College London, London, UK
Lancet Neurol 4:605-10. 2005..We propose that VH be added, as a supportive criterion, to the operational clinical criteria for the diagnosis of PD... - Failure in heat-shock protein expression in response to UBB+1 protein in progressive supranuclear palsy in humansAndrew D Hope
Reta Lila Weston Institute of Neurological Studies, University College London, 46 Cleveland Street, London, W1T 4JF, UK
Neurosci Lett 359:94-8. 2004..As HSPs are involved in both normal tau and proteasome function, these findings may be relevant to the aetiology of PSP and other tauopathies... - Genome-wide analysis of the parkinsonism-dementia complex of GuamHuw R Morris
Department of Molecular Pathogenesis and Sara Koe PSP Research Centre, Queen Square Brain Bank for Neurological Disorders, Insatitute of Neurology, University College London, London, England, UK
Arch Neurol 61:1889-97. 2004..CONCLUSIONS: This study has not identified a single gene locus for PDC, confirming the impression of a geographic disease isolate with a complex genetic, a genetic/environmental etiology, or a purely environmental etiology... - Punding in Parkinson's diseaseAndrew H Evans
Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, UK
Pract Neurol 7:397-9. 2007 - Excessive hoarding in Parkinson's diseaseSean S O'Sullivan
Reta Lila Weston Institute of Neurological Studies, University College London, United Kingdom
Mov Disord 25:1026-33. 2010..The association of hoarding with other ICBs and low trait impulse control suggests that excessive hoarding is related to the spectrum of impulsive behaviors in PD... - Dopamine dysregulation syndrome in Parkinson's diseaseAndrew H Evans
Reta Lila Weston Institute of Neurological Studies, University College London, The National Hospital for Neurology and Neurosurgery, London, UK
Curr Opin Neurol 17:393-8. 2004..Refinement of clinical strategies to predict, identify and manage this syndrome will aid the future treatment of motor and non-motor complications of Parkinson's disease... - Alteration in alpha-synuclein mRNA expression in Parkinson's diseaseAnn E Kingsbury
Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, London, United Kingdom
Mov Disord 19:162-70. 2004..These findings are in broad agreement with other studies of the expression of alpha-synuclein mRNA in human brain and suggest that Lewy body formation is unlikely to be the result of overexpression of alpha-synuclein... - Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsyDavid R Williams
The Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, Queen Square, London, United Kingdom
Mov Disord 22:895-7. 2007..No mutations were found in 75 patients (21 PSP-P), and H1c was associated with both Richardson's syndrome and PSP-P compared with controls. Routine screening for MAPT mutations in atypical PSP is not recommended... - Parkin disease: a phenotypic study of a large case seriesNaheed L Khan
Department of Molecular Pathogenesis, Royal Free Hospital and University College Medical School, London, UK
Brain 126:1279-92. 2003..Some relatives carrying a single parkin mutation without extrapyramidal symptoms or signs also had psychiatric symptoms that might be related to their carrier status... - Diffusion-weighted magnetic resonance imaging differentiates Parkinsonian variant of multiple-system atrophy from progressive supranuclear palsyDominic C Paviour
Sara Koe PSP Research Centre, Institute of Neurology, University College London, London, United Kingdom
Mov Disord 22:68-74. 2007..Increased rADCs in the pons and MCP were associated with smaller pontine and cerebellar volumes in MSA-P. rADCs distinguish MSA-P from PSP. These have a clinical correlate and are associated with reduced brainstem and cerebellar volumes... - A genetic cluster of early onset Parkinson's disease in a Colombian populationNicolas Pineda-Trujillo
Galton Laboratory, University College London, London, United Kingdom
Am J Med Genet B Neuropsychiatr Genet 141:885-9. 2006..Haplotype data exclude a recent common ancestry between the Spanish and Antioquian patients studied here and is consistent with the introduction of the G736A mutation in Antioquia during early colonial times (about 16 generations ago)... - Development of a sensitive ELISA for quantification of three- and four-repeat tau isoforms in tauopathiesConnie Luk
Reta Lila Weston Institute of Neurological Studies and Department of Molecular Neuroscience, UCL Institute of Neurology, 1 Wakefield Street, London WC1N1PJ, UK
J Neurosci Methods 180:34-42. 2009..With this, we have for the first time developed ELISAs for quantification of 3R- and 4R-tau isoforms in pathological samples. These could prove useful in the pathological investigation and differential diagnosis of tauopathies... - Diagnostic considerations in juvenile parkinsonismDominic C Paviour
National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom
Mov Disord 19:123-35. 2004..Lewy body pathology has only been reported in one case, suggesting that a juvenile form of idiopathic Parkinson's disease may be extremely rare... - Health-related quality of life in patients with progressive supranuclear palsyAnette Schrag
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, London, United Kingdom
Mov Disord 18:1464-9. 2003..The item pool created in these interviews provides the basis for the development of disease-specific QoL instruments for patients with PSP... - Holmes tremor: Application of modern neuroimaging techniquesDominic C Paviour
The Sara Koe PSP Research Centre, The Institute of Neurology, UCL, London, United Kingdom
Mov Disord 21:2260-2. 2006..Modern neuroimaging techniques in this case confirm that a combination of damage to the cerebello-rubrothalamic pathway and the nigrostriatal pathway is required for the full Holmes tremor syndrome to occur... - The tau locus is not significantly associated with pathologically confirmed sporadic Parkinson's diseaseRohan de Silva
Reta Lila Weston Institute of Neurological Studies, Royal Free and University College Medical School, London, UK
Neurosci Lett 330:201-3. 2002.... - [(123)I]-FP-CIT-SPECT in the early diagnosis of PD presenting as exercise-induced dystoniaRegina Katzenschlager
National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
Neurology 59:1974-6. 2002..The authors present a patient with dystonic claudication where dopamine transporter SPECT using (123)I-FP-CIT allowed early diagnosis of PD and enabled effective symptomatic treatment with a dopamine agonist... - CSF and serum immune parameters in Sydenham's chorea: evidence of an autoimmune syndrome?Andrew J Church
Neuroimmunology Unit, Neuroinflammation Department, Institute of Neurology, Room 917, Queen Square, London WC1N 3BG, UK
J Neuroimmunol 136:149-53. 2003..OCB were found in 46% of acute SC, ABGA were in 93% of acute SC and 50% of persistent SC was of IgG(1) and IgG(3) subclass. These findings support an autoantibody pathogenesis... - Alzheimer's associated variant ubiquitin causes inhibition of the 26S proteasome and chaperone expressionAndrew D Hope
Reta Lila Weston Institute of Neurological Studies, University College, London, UK
J Neurochem 86:394-404. 2003..We conclude that although UBB+1-expressing cells have a compromised ubiquitin-proteasome system, they are protected against oxidative stress conditions... - The role of pathogenic DJ-1 mutations in Parkinson's diseasePatrick M Abou-Sleiman
Department of Molecular Neuroscience, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
Ann Neurol 54:283-6. 2003..No mutations were found in our cohort of later onset sporadic pathologically confirmed cases, suggesting that DJ-1 mutations may only rarely contribute to the cause of this more typical sporadic form of the disease... - Parkinson's syndrome associated with neurofibrillary degeneration and tau pathologic findingsAndrew J Lees
Reta Lila Weston Institute of Neurological Studies, University College London, Windeyer Medical Institute, London, United Kingdom
Mov Disord 18:S28-33. 2003..Further characterisation of these cases frequently confused with Parkinson's disease may broaden the clinical spectrum of parkinsonian disorders linked with neurofibrillary tangle formation... - Odd and unusual movement disordersAndrew J Lees
Weston Institute of Neurological Studies, Royal Free and University College London Medical School, Windeyer Institute of Medical Science, London UK
J Neurol Neurosurg Psychiatry 72:I17-I21. 2002 - Encephalitis lethargica syndrome: 20 new cases and evidence of basal ganglia autoimmunityRussell C Dale
Neurosciences Unit, Great Ormond Street Hospital and Institute of Child Health, and Department of Neuroinflammation, Institute of Neurology, University College London, UK
Brain 127:21-33. 2004..We believe an EL-like syndrome is still prevalent, and propose that this syndrome may be secondary to autoimmunity against deep grey matter neurons...